A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3607988



Internal ID6648227
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:6005122..6044365hg38UCSC Ensembl
chr6:6005355..6044598hg19UCSC Ensembl
Cytoband6p25.1
Allele length
AssemblyAllele length
hg3839244
hg1939244
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12180893
SamplesNA20294
Known GenesNRN1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3607988
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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